Mouse Genome Informatics
hm
    Airetm1Pltn/Airetm1Pltn
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
endocrine/exocrine glands
• absence of the adrenal glands is seen with incomplete penetrance; however, the thyroid and pancreas are normal
• thymic atrophy is seen in 2 of 14 mutants

immune system
• thymic atrophy is seen in 2 of 14 mutants
• the TCR-Vbeta repertoire is altered in peripheral T cells
• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls
• 73% of homozygous mice generated autoantibodies against at least one of the organs (liver, testis, pancreas and adrenal gland) tested and 40% of mice contain autoantibodies against two or more of the organs
• 50% of mutants exhibit accumulation of lymphocytes in periportal regions

liver/biliary system
• 50% of mutants exhibit accumulation of lymphocytes in periportal regions

reproductive system
• 85% of male or female mutants fail to produce any litters

hematopoietic system
• thymic atrophy is seen in 2 of 14 mutants
• the TCR-Vbeta repertoire is altered in peripheral T cells
• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls

Mouse Models of Human Disease
OMIM IDRef(s)
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia; APS1 240300 J:77873